Abnormal regional homogeneity and its relationship with symptom severity in cervical dystonia: a rest state fMRI study.

BACKGROUND: Although several brain networks play important roles in cervical dystonia (CD) patients, regional homogeneity (ReHo) changes in CD patients have not been clarified. We investigated to explore ReHo in CD patients at rest and analyzed its correlations with symptom severity as measured by Tsui scale. METHODS: A total of 19 CD patients and 21 gender-, age-, and education-matched healthy controls underwent fMRI scans at rest state. Data were analyzed by ReHo method. RESULTS: Patients showed increased ReHo in the right cerebellum crus I and decreased ReHo in the right superior medial prefrontal cortex (MPFC). Moreover, the right precentral gyrus, right insula, and bilateral middle cingulate gyrus also showed increased ReHo values. A significantly positive correlation was observed between ReHo value in the right cerebellum crus I and symptom severity (p < 0.05). CONCLUSIONS: Our investigation suggested abnormal ReHo existed in brain regions of the "pain matrix" and salience network (the right insula and bilateral middle cingulate gyrus), the motor network (the right precentral gyrus), the cerebellum and MPFC and further highlighted the significance of these networks in the pathology of CD.

Voxel-Wise Brain-Wide Functional Connectivity Abnormalities in Patients with Primary Blepharospasm at Rest.

Background: Primary blepharospasm (BSP) is one of the most common focal dystonia and its pathophysiological mechanism remains unclear. An unbiased method was used in patients with BSP at rest to observe voxel-wise brain-wide functional connectivity (FC) changes. Method: A total of 48 subjects, including 24 untreated patients with BSP and 24 healthy controls, were recruited to undergo functional magnetic resonance imaging (fMRI). The method of global-brain FC (GFC) was adopted to analyze the resting-state fMRI data. We designed the support vector machine (SVM) method to determine whether GFC abnormalities could be utilized to distinguish the patients from the controls. Results: Relative to healthy controls, patients with BSP showed significantly decreased GFC in the bilateral superior medial prefrontal cortex/anterior cingulate cortex (MPFC/ACC) and increased GFC in the right postcentral gyrus/precentral gyrus/paracentral lobule, right superior frontal gyrus (SFG), and left paracentral lobule/supplement motor area (SMA), which were included in the default mode network (DMN) and sensorimotor network. SVM analysis showed that increased GFC values in the right postcentral gyrus/precentral gyrus/paracentral lobule could discriminate patients from controls with optimal accuracy, specificity, and sensitivity of 83.33%, 83.33%, and 83.33%, respectively. Conclusion: This study suggested that abnormal GFC in the brain areas associated with sensorimotor network and DMN might underlie the pathophysiology of BSP, which provided a new perspective to understand BSP. GFC in the right postcentral gyrus/precentral gyrus/paracentral lobule might be utilized as a latent biomarker to differentiate patients with BSP from controls.

Alterations of Interhemispheric Functional Connectivity and Degree Centrality in Cervical Dystonia: A Resting-State fMRI Study.

Background: Cervical dystonia (CD) is a neurological movement disorder characterized by involuntary head and neck movements and postures. Reports on microstructural and functional abnormalities in multiple brain regions not limited to the basal ganglia have been increasing in patients with CD. However, the neural bases of CD are unclear. This study is aimed at identifying cerebral functional abnormalities in CD by using resting-state functional magnetic resonance imaging (rs-fMRI). Methods: Using rs-fMRI data, voxel-mirrored homotopic connectivity (VMHC) and degree centrality were used to compare the alterations of the rs-functional connectivity (FC) between 19 patients with CD and 21 healthy controls. Regions showing abnormal FCs from two measurements were the regions of interest for correlation analyses. Results: Compared with healthy controls, patients with CD exhibited significantly decreased VMHC in the supplementary motor area (SMA), precuneus (PCu)/postcentral gyrus, and superior medial prefrontal cortex (MPFC). Significantly increased degree centrality in the right PCu and decreased degree centrality in the right lentiform nucleus and left ventral MPFC were observed in the patient group compared with the control group. Further correlation analyses showed that the VMHC values in the SMA were negatively correlated with dystonia severity. Conclusion: Local abnormalities and interhemispheric interaction deficits in the sensorimotor network (SMA, postcentral gyrus, and PCu), default mode network (MPFC and PCu), and basal ganglia may be the key characteristics in the pathogenesis mechanism of CD.

Increased functional connectivity coupling with supplementary motor area in blepharospasm at rest.

OBJECTIVE: To explore the abnormalities of brain function in blepharospasm (BSP) and to illustrate its neural mechanisms by assuming supplementary motor area (SMA) as the entry point. METHODS: Twenty-five patients with BSP and 23 controls underwent resting-state functional MRI, seed-based functional connectivity (FC), correlation analysis, receiver operating characteristic curve (ROC) analysis, and support vector machine (SVM) were applied to process the data. RESULTS: Patients showed that the left medial prefrontal cortex (MPFC), left lingual gyrus, right cerebellar crus I, and right lingual gyrus/cerebellar crus I had enhanced FC with the left SMA, whereas the right inferior temporal gyrus (ITG) had enhanced FC with the right SMA relative to controls. The FC between the left MPFC and left SMA was positively correlated with symptomatic severity. The ROC analysis verified that the abnormal FCs demonstrated in this study can separate patients and controls at high sensitivity and specificity. SVM analysis exhibited that combined FCs of the left SMA were optimal for distinguishing patients and control group at the accuracy of 89.58%, with sensitivity of 92.00% and specificity of 86.96%. CONCLUSIONS: Several brain networks partake in the neurobiology of BSP. SMA plays a vital role in several brain networks and might be the key pathogenic factor in BSP. SIGNIFICANCE: Providing novel evidence for the engagement of the MPFC in the motor symptoms of BSP, enhancing credibility of the thesis that SMA regulates the neurobiology of BSP, and providing ideas of screening susceptible population of BSP using neuroimaging.

Intracranial angioplasty with a self-expandable stent for intracranial atherosclerotic stenosis: Systematic review and meta-analysis.

Background: Intracranial angioplasty with a self-expandable stent (SES) is an important endovascular therapy for symptomatic intracranial arterial stenosis. We sought to update the evaluation of the perioperative safety and long-term outcomes of self-expandable stent for the treatment of symptomatic intracranial arterial stenosis. Methods: We comprehensively searched the published literature from each database through Sept 16, 2022, for the PubMed, EMBASE, Web of Science, Cochrane, and Clinical Trials databases. The characteristics of the studies and patients, perioperative complications, and long-term outcomes were extracted. The pooled outcomes and 95% confidence intervals (CIs) were estimated by Stata Statistical Software 14.0. Results: A total of 4,632 patients from 58 studies were included. The pooled rate of perioperative stroke or death was 6.32% (95% CI 5.04-7.72%); ischemic stroke beyond 30 days through 1 year was 2.72% (95% CI 1.41-4.38%). Perioperative complications differed between the 2014-2022 and 2005-2013 subgroups, as did long-term outcomes between the off-label SES and Wingspan subgroups. Conclusion: The perioperative complications of intracranial angioplasty with SES have been reduced, but the risk of perioperative stroke or death is still higher than that of aggressive medical therapy, and additional studies are needed to determine whether it has better long-term outcomes than aggressive medical therapy. Perioperative complications varied between the 2014-2022 and 2005-2013 subgroups, as did long-term outcomes between the off-label SES and Wingspan subgroups. Given the high level of heterogeneity observed between the included studies, these results should be interpreted with caution and additional studies are needed. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier: CRD42022316066.

Comparing Brain Functional Activities in Patients With Blepharospasm and Dry Eye Disease Measured With Resting-State fMRI.

Background: Blepharospasm (BSP) and dry eye disease (DED) are clinically common diseases characterized by an increased blinking rate. A sustained eyelid muscle activity may alter the cortical sensorimotor concordance and lead to secondary functional changes. This study aimed to explore the central mechanism of BSP by assessing brain functional differences between the two groups and comparing them with healthy controls. Methods: In this study, 25 patients with BSP, 22 patients with DED, and 23 healthy controls underwent resting-state functional magnetic resonance imaging (fMRI) scan. The amplitude of low-frequency fluctuations (ALFF) was applied to analyze the imaging data. Results: Analysis of covariance (ANCOVA) revealed widespread differences in ALFF across the three groups. In comparison with healthy controls, patients with BSP showed abnormal ALFF in the sensorimotor integration related-brain regions, including the bilateral supplementary motor area (SMA), left cerebellar Crus I, left fusiform gyrus, bilateral superior medial prefrontal cortex (MPFC), and right superior frontal gyrus (SFG). In comparison with patients with DED, patients with BSP exhibited a significantly increased ALFF in the left cerebellar Crus I and left SMA. ALFF in the left fusiform gyrus/cerebellar Crus I was positively correlated with symptomatic severity of BSP. Conclusions: Our results reveal that the distinctive changes in the brain function in patients with BSP are different from those in patients with DED and healthy controls. The results further emphasize the primary role of sensorimotor integration in the pathophysiology of BSP.

Abnormal Network Homogeneity in the Right Superior Medial Frontal Gyrus in Cervical Dystonia.

Background: Increasing evidence from modern neuroimaging has confirmed that cervical dystonia (CD) is caused by network abnormalities. Specific brain networks are known to be crucial in patients suffering from CD. However, changes in network homogeneity (NH) in CD patients have not been characterized. Therefore, the purpose of this study was to investigate the NH of patients with CD. Methods: An automated NH method was used to analyze resting-state functional magnetic resonance (fMRI) data from 19 patients with CD and 21 gender- and age-matched healthy controls (HC). Correlation analysis were conducted between NH, illness duration and symptom severity measured by the Tsui scale. Results: Compared with the HC group, CD patients showed a lower NH in the right superior medial frontal gyrus. No significant correlations were found between abnormal NH values and illness duration or symptom severity. Conclusion: Our findings suggest the existence of abnormal NH in the default mode network (DMN) of CD patients, and thereby highlight the importance of the DMN in the pathophysiology of CD.

Abnormal Spontaneous Brain Activities of Limbic-Cortical Circuits in Patients With Dry Eye Disease.

Whether brain function is altered in patients with dry eye disease (DED) remains unclear. Twenty patients with DED and 23 healthy controls (HCs) were scanned using resting-state functional magnetic resonance imaging. Regional homogeneity (ReHo) and support vector machine (SVM) were used to analyze the imaging data. Relative to the HCs, the patients with DED showed significantly increased ReHo values in the left inferior occipital gyrus (IOG), left superior temporal gyrus, and right superior medial prefrontal cortex, and significantly decreased ReHo values in the right superior frontal gyrus/middle frontal gyrus and bilateral middle cingulum (MC). SVM results indicated that the combination of ReHo values in the left MC and the left IOG in distinguishing patients with DED from HCs had a sensitivity of 95.00%, a specificity of 91.30%, and an accuracy of 93.02%. The present study found that the patients with DED had abnormal ReHo values in the limbic-cortical circuits. A combination of ReHo values in the left MC and the left IOG could be applied as a potential imaging biomarker to distinguish patients with DED from HCs. The dysfunction of limbic-cortical circuits may play an important role in the pathophysiology of DED.

Reduced Global-Brain Functional Connectivity of the Cerebello-Thalamo-Cortical Network in Patients With Dry Eye Disease.

Background: The pathophysiology of patients with dry eye disease (DED) is associated with abnormal functional connectivity (FC). The present study aims to probe alterations of voxel-wise brain-wide FC in patient with DED at rest in an unbiased way. Method: A total of 20 patients with DED and 23 controls matched by age, sex, and years of education underwent resting-state functional magnetic resonance imaging scans. Global-brain FC (GFC) was adopted to analyze the images. Support vector machine (SVM) was utilized to differentiate the patients from the controls. Results: Compared with the controls, patients with DED exhibited decreased GFC in the right cerebellum lobule VIII/inferior semi-lunar lobule and left thalamus that belonged to the cerebello-thalamo-cortical network. The GFC values in the left thalamus were positively correlated to the illness duration (r = 0.589, p = 0.006) in the patients. Decreased GFC values in the left thalamus could be used to discriminate the patients from the controls with optimal accuracy, sensitivity and specificity (88.37, 85.00, and 91.30%). Conclusions: Our findings indicate that decreased GFC in the brain regions associated with cerebello-thalamo-cortical network may provide a new insight for understanding the pathological changes of FC in DED. GFC values in the left thalamus may be utilized as a potential biomarker to identify the patients from the controls.

Reduced Global-Brain Functional Connectivity and Its Relationship With Symptomatic Severity in Cervical Dystonia.

Background: Altered functional connectivity (FC) is related to pathophysiology of patients with cervical dystonia (CD). However, inconsistent results may be obtained due to different selected regions of interest. We explored voxel-wise brain-wide FC changes in patients with CD at rest in an unbiased manner and analyzed their correlations with symptomatic severity using the Tsui scale. Method: A total of 19 patients with CD and 21 sex- and age-matched healthy controls underwent resting-state functional magnetic resonance imaging scans. Global-brain FC (GFC) was applied to analyze the images. Support vector machine was used to distinguish the patients from the controls. Results: Patients with CD exhibited decreased GFC in the right precentral gyrus and right supplementary motor area (SMA) that belonged to the M1-SMA motor network. Significantly negative correlation was observed between GFC values in the right precentral gyrus and symptomatic severity in the patients (r = -0.476, p = 0.039, uncorrected). Decreased GFC values in these two brain regions could be utilized to differentiate the patients from the controls with good accuracies, sensitivities and specificities (83.33, 85.71, and 80.95% in the right precentral gyrus; and 87.59, 89.49, and 85.71% in the right SMA). Conclusions: Our investigation suggests that patients with CD show reduced GFC in brain regions of the M1-SMA motor network and provides further insights into the pathophysiology of CD. GFC values in the right precentral gyrus and right SMA may be used as potential biomarkers to recognize the patients from the controls.

Abnormal spontaneous neural activity of brain regions in patients with primary blepharospasm at rest.

BACKGROUND: Primary blepharospasm (BSP) is characterized by excessive involuntary eyelid spasms without significant morphological brain abnormalities. Its neural bases remain unclear. Resting-state functional magnetic resonance imaging (rs-fMRI) is a powerful tool for exploring cerebral function mechanisms in BSP. METHODS: Two subject groups (24 patients with BSP and 24 healthy controls) underwent rs-fMRI scans. The rs-fMRI images were analyzed using the regional homogeneity (ReHo) method to assess the local features of spontaneous brain activity. Correlation analysis was carried out to explore the relationship between the ReHo values of abnormal brain areas and clinical variables including illness duration, symptom severity, and depression/anxiety symptoms. RESULTS: Relative to healthy controls, patients with BSP showed significantly decreased ReHo in the left superior temporal pole/left insula, left calcarine cortex, and bilateral superior medial frontal gyrus (mSFG), and increased ReHo in the bilateral supplementary motor area (SMA). There were no significant correlations between ReHo values in these brain regions and clinical variables in the patients. CONCLUSIONS: Our results suggest that abnormal spontaneous brain activity in multiple brain regions not limited to the basal ganglia may be trait alterations in the patients, which provides more insights into the pathogenesis of BSP.

Voxel-Mirrored Homotopic Connectivity of Resting-State Functional Magnetic Resonance Imaging in Blepharospasm.

Objective: Several networks in human brain are involved in the development of blepharospasm. However, the underlying mechanisms for this disease are poorly understood. A voxel-mirrored homotopic connectivity (VMHC) method was used to quantify the changes in functional connectivity between two hemispheres of the brain in patients with blepharospasm. Methods: Twenty-four patients with blepharospasm and 24 healthy controls matched by age, sex, and education were recruited. The VMHC method was employed to analyze the fMRI data. The support vector machine (SVM) method was utilized to examine whether these abnormalities could be applied to distinguish the patients from the controls. Results: Compared with healthy controls, patients with blepharospasm showed significantly high VMHC in the inferior temporal gyrus, interior frontal gyrus, posterior cingulate cortex, and postcentral gyrus. No significant correlation was found between abnormal VMHC values and clinical variables. SVM analysis showed a combination of increased VMHC values in two brain areas with high sensitivities and specificities (83.33 and 91.67% in the combined inferior frontal gyrus and posterior cingulate cortex; and 83.33 and 87.50% in the combined inferior temporal gyrus and postcentral gyrus). Conclusion: Enhanced homotopic coordination in the brain regions associated with sensory integration networks and default-mode network may be underlying the pathophysiology of blepharospasm. This phenomenon may serve as potential image markers to distinguish patients with blepharospasm from healthy controls.

[Aberrance analysis of mitochondrial DNA in a family with hereditary ataxia in Guangxi province].

OBJECTIVE: To investigate the point mutations of mitochondrial DNA in the families with hereditary ataxia. METHODS: Polymerase chain reaction and single strand conformation polymorphism (SSCP) were used to analyze the mitochondrial DNA extracted from human peripheral white blood cells from the families with HA and 35 normal controls. Sequencing was performed to search the point mutations in mitochondrial DNA of those subjects whose results of SSCP were abnormal. RESULTS: A mitochondrial DNA point mutation 11893(A>G) was identified in 2 patients and 1 family member without symptoms. CONCLUSION: A new point mutation 11893(A>G) of detected mitochondrial DNA may be relative to hereditary ataxia.

A systematic review of closure versus medical therapy for preventing recurrent stroke in patients with patent foramen ovale and cryptogenic stroke or transient ischemic attack.

The optimal treatment for secondary prevention in patients who have a patent foramen ovale (PFO) and history of cryptogenic stroke is still uncertain and controversial. In view of this, we performed a systematic review of randomized controlled trials (RCTs) to investigate whether PFO closure was superior to medical therapy for prevention of recurrent stroke or transient ischemic attack (TIA) in patients with PFO after cryptogenic stroke. We searched the Cochrane Central Register of Controlled Trials, Embase, PubMed, Web of Science, and ClinicalTrials.gov. Three randomized controlled trials with a total of 2303 patients were included and analyzed. A fixed-effect model was used by Review Manager 5.2 (RevMan 5.2) software. The pooled risk ratio (RR) of recurrent stroke or TIA was 0.70, with 95% confidence interval (CI) = 0.47 to 1.04, p = 0.08. The results were similar in the incidence of death and adverse events, and the pooled RR was 0.92 (95% CI = 0.34 to 2.45, p = 0.86) and 1.08 (95% CI = 0.93 to 1.26, p = 0.32), respectively. The data of this systematic review did not show superiority of closure over medical therapy for secondary prevention after cryptogenic stroke. Due to some limitations of the included studies, more randomized controlled trials are needed for further investigation regarding this field.